Canonical Allele Identifier: CA328121
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53883
dbSNP Id: rs397508668

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664801_117664804delinsAA , CM000669.2:g.117664801_117664804delinsAA GRCh38
NC_000007.13:g.117304855_117304858delinsAA , CM000669.1:g.117304855_117304858delinsAA GRCh37
NC_000007.12:g.117092091_117092094delinsAA NCBI36
NG_016465.4:g.204018_204021delinsAA , LRG_663:g.204018_204021delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*286_*289delinsAA ENSP00000497673.2:n.*286_*289delinsAA
ENST00000647978.2:c.*3791_*3794delinsAA ENSP00000497658.1:n.*3791_*3794delinsAA
ENST00000649781.2:c.3894_3897delinsAA ENSP00000497203.1:p.Val1299ThrfsTer3
ENST00000685018.2:c.*290_*293delinsAA ENSP00000510194.2:n.*290_*293delinsAA
ENST00000687278.2:c.*730_*733delinsAA ENSP00000509593.2:n.*730_*733delinsAA
ENST00000699585.1:c.*286_*289delinsAA ENSP00000514456.1:n.*286_*289delinsAA
ENST00000699598.1:c.4077_4080delinsAA ENSP00000514467.1:p.Val1360ThrfsTer3
ENST00000699599.1:c.*290_*293delinsAA ENSP00000514468.1:n.*290_*293delinsAA
ENST00000699600.1:c.*738_*741delinsAA ENSP00000514469.1:n.*738_*741delinsAA
ENST00000699601.1:c.*2452_*2455delinsAA ENSP00000514470.1:n.*2452_*2455delinsAA
ENST00000699602.1:c.4071_4074delinsAA ENSP00000514471.1:p.Val1358ThrfsTer3
ENST00000699604.1:c.*3901_*3904delinsAA ENSP00000514472.1:n.*3901_*3904delinsAA
ENST00000699605.1:c.3651_3654delinsAA ENSP00000514473.1:p.Val1218ThrfsTer3
ENST00000699606.1:n.2245_2248delinsAA
ENST00000685018.1:c.941_944delinsAA ENSP00000510194.1:n.941_944delinsAA
ENST00000687278.1:c.1864_1867delinsAA ENSP00000509593.1:n.1864_1867delinsAA
ENST00000689011.1:c.659_662delinsAA
ENST00000003084.11:c.4077_4080delinsAA MANE Select ENSP00000003084.6:p.Val1360ThrfsTer3
ENST00000647720.1:c.1527_1530delinsAA
ENST00000649781.1:c.3894_3897delinsAA ENSP00000497203.1:p.Val1299ThrfsTer3
ENST00000003084.10:c.4077_4080delinsAA ENSP00000003084.6:p.Val1360ThrfsTer3
ENST00000426809.5:c.3987_3990delinsAA ENSP00000389119.1:p.Val1330ThrfsTer3
ENST00000600166.1:c.203_206delinsAA
NM_000492.3:c.4077_4080delinsAA , LRG_663t1:c.4077_4080delinsAA NP_000483.3:p.Val1360ThrfsTer3
XM_011515751.1:c.4167_4170delinsAA XP_011514053.1:p.Val1390ThrfsTer3
XM_011515752.1:c.4167_4170delinsAA XP_011514054.1:p.Val1390ThrfsTer3
XM_011515753.1:c.3834_3837delinsAA XP_011514055.1:p.Val1279ThrfsTer3
XM_011515754.1:c.3834_3837delinsAA XP_011514056.1:p.Val1279ThrfsTer3
NM_000492.4:c.4077_4080delinsAA MANE Select NP_000483.3:p.Val1360ThrfsTer3